Benjamin Cognè

5.1k citations
143 papers · 3.1k · h-index 32

Impact in

  • Genetics top 2%
    • Genetics and Neurodevelopmental Disorders
    • Genomics and Rare Diseases
    • Genomic variations and chromosomal abnormalities
  • Molecular Biology top 5%
    • RNA modifications and cancer
    • RNA Research and Splicing
    • Ubiquitin and proteasome pathways
    • Congenital heart defects research
    • Epigenetics and DNA Methylation

Papers in

  • Genetics 80
    • Genetics and Neurodevelopmental Disorders 47
    • Genomics and Rare Diseases 37
    • Genomic variations and chromosomal abnormalities 15
  • Molecular Biology 80
    • RNA modifications and cancer 21
    • RNA Research and Splicing 17
    • Ubiquitin and proteasome pathways 15
    • RNA and protein synthesis mechanisms 13
    • Congenital heart defects research 11
Co-authors
Adrien Léger (4 shared papers)Philippe Moullier (4 shared papers)Pierre Lindenbaum (4 shared papers)Véronique Blouin (2 shared papers)Richard Redon (3 shared papers)Jean‐Baptiste Dupont (3 shared papers)Bertrand Isidor (6 shared papers)Otto‐Wilhelm Merten (1 shared paper)
Journals
The American Journal of Human Genetics (30 papers)Genetics in Medicine (20 papers)European Journal of Human Genetics (9 papers)Clinical Genetics (8 papers)Journal of Medical Genetics (7 papers)
Partner nations
FranceUnited StatesGermany

In The Last Decade

Benjamin Cognè

129 papers receiving 3.1k citations

Peers

Benjamin Cognè
Comparison fields: 5 of 131
  • Genetics 1.3k
  • Molecular Biology 1.8k
  • Aging 27
  • Cell Biology 235
  • Developmental Neuroscience 52
Replace Frédéric Tran Mau‐Them with:
Frédéric Tran Mau‐Them France
Brendan C. Lanpher United States
Kirsty M. McWalter United States
Margot R.F. Reijnders Netherlands
Mathilde Nizon France
Antonio Vitobello France
Marie Vincent France
Anna Lindstrand Sweden
Julie S. Cohen United States
Angelika Rieß Germany
Benjamin Cognè relative to Frédéric Tran Mau‐Them France Frédéric Tran Mau‐Them's profile →
Citations per field
00.5×1.6×
Frédéric Tran Mau‐Them · 1×
Citations per year

Countries citing papers authored by Benjamin Cognè

Since Specialization
Citations

This map shows the geographic impact of Benjamin Cognè's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Benjamin Cognè with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Benjamin Cognè more than expected).

Fields of papers citing papers by Benjamin Cognè

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Benjamin Cognè. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Benjamin Cognè. The network helps show where Benjamin Cognè may publish in the future.

Co-authors

The 25 scholars most cited alongside Benjamin Cognè, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Benjamin Cognè Line = papers co-authored together Benjamin Cognè links everyone, so they are left out of the graph.

All Works

20 of 20 papers shown

Showing the 20 most-cited of 143 papers — load more, or switch the sort, to bring in the rest.

#Work
1
Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development
Neuron ·Ashley L. Lennox, Mariah L. Hoye, Ruiji Jiang, Bethany Johnson-Kerner, Lindsey Suit, Srivats Venkataramanan, Charles J. Sheehan, Fernando Cruz Alsina
2020140
2
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
The American Journal of Human Genetics ·Sébastien Küry, Geeske M. van Woerden, Thomas Besnard, Martina Proietti Onori, Xénia Latypova, Meghan C. Towne, Megan T. Cho, Trine Prescott
2017139
3
SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation
Human Genomics ·Jean‐Madeleine de Sainte Agathe, Mathilde Filser, Bertrand Isidor, Thomas Besnard, Paul Guéguen, Aurélien Perrin, Charles Van Goethem, Camille Verebi
2023101
4
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway
The American Journal of Human Genetics ·Justyna A. Karolak, Marie Vincent, Gail H. Deutsch, Tomasz Gambin, Benjamin Cognè, Olivier Pichon, Francesco Vetrini, Heather C. Mefford
201993
5
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures
The American Journal of Human Genetics ·Slavé Petrovski, Sébastien Küry, Candace T. Myers, Kwame Anyane‐Yeboa, Benjamin Cognè, Martin G. Bialer, Fan Xia, Parisa Hemati
201692
6
KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants
Genetics in Medicine ·Joanna Kennedy, David R. Goudie, Edward M. Blair, Kate Chandler, Shelagh K. Joss, Victoria H. McKay, Andrew Green, Ruth Armstrong
201890
7
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
The American Journal of Human Genetics ·Sébastien Küry, Thomas Besnard, Frédéric Ebstein, Tahir Naeem Khan, Tomasz Gambin, Jessica Douglas, Carlos A. Bacino, William James Craigen
201790
8
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
Science Advances ·Laura M. Bryant, Dong Li, Samuel G. Cox, Dylan M. Marchione, Evan F. Joiner, Khadija Wilson, Kevin Janssen, Pearl Lee
202080
9
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder
The American Journal of Human Genetics ·Davor Lessel, Claudia Schob, Sébastien Küry, Margot R.F. Reijnders, Tamar Zohar Harel, Mohammad K. Eldomery, Zeynep Coban‐Akdemir, Jonas Denecke
201774
10
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes
Human Molecular Genetics ·Lina Liang, Xia Li, Sébastien Moutton, Samantha A. Schrier Vergano, Benjamin Cognè, Anne de Saint Martin, Anna Hurst, Yushuang Hu
201974
11
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders
The American Journal of Human Genetics ·Sónia Barbosa, Stephanie L. Greville-Heygate, Maxime Bonnet, Annie Godwin, Christine Fagotto‐Kaufmann, Andrey V. Kajava, Damien Laouteouet, Rebecca Mawby
202072
12
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
Nature Genetics ·Margot A. Cousin, Blake A. Creighton, Keith A. Breau, Rebecca C. Spillmann, Erin E. Torti, Sruthi Dontu, Swarnendu Tripathi, Deepa Ajit
202169
13
Advanced Characterization of DNA Molecules in rAAV Vector Preparations by Single-stranded Virus Next-generation Sequencing
Molecular Therapy — Nucleic Acids ·Émilie Lecomte, Benoît Tournaire, Benjamin Cognè, Jean‐Baptiste Dupont, Pierre Lindenbaum, Mélanie Martin-Fontaine, Frédéric Broucque, Cécile Robin
201564
14
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia
The American Journal of Human Genetics ·Claire Guissart, Xénia Latypova, Paul Rollier, Tahir Naeem Khan, Hannah Stamberger, Kirsty M. McWalter, Megan T. Cho, Susanne Kjærgaard
201859
15
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features
The American Journal of Human Genetics ·Teresa Santiago‐Sim, Lindsay Catherine Burrage, Frédéric Ebstein, Mari Tokita, Marcus James Miller, Weimin Bi, Alicia A. Braxton, Jill A. Rosenfeld
201755
16
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism
The American Journal of Human Genetics ·Frederike Leonie Harms, Katta M. Girisha, Andrew A. Hardigan, Fanny Kortüm, Anju Shukla, Malik Alawi, Ashwin Bhikaji Dalal, Lauren Brady
201654
17
Delineating FOXG1 syndrome
Neurology Genetics ·Nancy Végas, Mara Cavallin, Camille Maillard, Nathalie Boddaert, Joseph Toulouse, Élise Schaefer, Tally Lerman‐Sagie, Dorit Lev
201849
18
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome
Genetics in Medicine ·Thomas Besnard, Natacha Sloboda, Alice Goldenberg, Sébastien Küry, Benjamin Cognè, Flora Bréhéret, Eva Trochu, Solène Conrad
201948
19
Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations
Annals of Clinical and Translational Neurology ·Jillian M. Cameron, Snezana Maljevic, Umesh Nair, Ye Htet Aung, Benjamin Cognè, Stéphane Bezieau, Edward M. Blair, Bertrand Isidor
201941
20
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
The American Journal of Human Genetics ·Benjamin Cognè, Sophie Ehresmann, Éliane Beauregard‐Lacroix, Justine Rousseau, Thomas Besnard, Thomas Xavier Garcia, Slavé Petrovski, Shiri Avni
201941

About Benjamin Cognè

Benjamin Cognè is a scholar working on Genetics, Molecular Biology, Cell Biology, Immunology and Allergy and Oncology, having authored 143 papers that have together received 3.1k indexed citations. Recurring topics across this work include Genetics and Neurodevelopmental Disorders (47 papers), Genomics and Rare Diseases (37 papers), RNA modifications and cancer (21 papers), RNA Research and Splicing (17 papers), Genomic variations and chromosomal abnormalities (15 papers), Ubiquitin and proteasome pathways (15 papers), RNA and protein synthesis mechanisms (13 papers) and Congenital heart defects research (11 papers). The work is most often cited by research in Genetics (1.3k citations), Molecular Biology (1.8k citations), Aging (27 citations), Cell Biology (235 citations) and Developmental Neuroscience (52 citations). Benjamin Cognè has collaborated with scholars based in France, United States and Germany. Frequent co-authors include Adrien Léger, Philippe Moullier, Pierre Lindenbaum, Véronique Blouin, Richard Redon, Jean‐Baptiste Dupont, Bertrand Isidor, Otto‐Wilhelm Merten, Magalie Penaud‐Budloo and Matthias Hebben. Their work appears in journals such as The American Journal of Human Genetics, Genetics in Medicine, European Journal of Human Genetics, Clinical Genetics and Journal of Medical Genetics.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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